苯丙酮尿症是小儿时期较常见的一种先天性氨基酸代谢障碍所致的以神经系统受累为主的疾病。笔者收治1例,现报告如下: 典型病例:患儿段某,男,7个月,主因“阵发性抽搐”入院。患儿系第胎足月顺产,混合喂养。出生时正常,生后一个半月头发渐变黄,肤色变浅,4个月会微笑,并间断抽搐,每次持续4～5分钟,可自行缓解。7个月不会伸手取物,不会坐,不认父母。 Phenylketonuria is a more common childhood congenital amino acid metabolism caused by the nervous system involvement of the disease. The author admitted in 1 case, are as follows: Typical cases: a section of children, male, 7 months, mainly due to “paroxysmal convulsions” admitted. Pediatric fetus full-term births, mixed feeding. Birth is normal, one and a half months after birth, his hair gradually yellow, pale skin, 4 months will be a smile, and intermittent convulsions, each lasting 4 to 5 minutes, can ease itself. 7 months will not reach out to pick up, will not sit, do not recognize their parents.